ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.842C>T (p.Thr281Met)

gnomAD frequency: 0.00001  dbSNP: rs760970272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001344004 SCV001538032 uncertain significance Spondylocostal dysostosis 3, autosomal recessive 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 281 of the LFNG protein (p.Thr281Met). This variant is present in population databases (rs760970272, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LFNG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040378). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002547430 SCV003527347 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.842C>T (p.T281M) alteration is located in exon 6 (coding exon 6) of the LFNG gene. This alteration results from a C to T substitution at nucleotide position 842, causing the threonine (T) at amino acid position 281 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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